Using an sgRNA (targeting TGACAATGATGGGTCTTCTGAGG) and an ssODN template (CTCCTCAGAGCTGAAACTCACCCAGGGAACCTAGAAACTCTCTGAGGCACCTCACCTGAAATGACAATGAGGGGTCTTCTGAGAATGTTGCTGAGGACAAATATGTGGATTTCTTCCAGGGAATTGTACTGAAGTCCACTTCGGGCTGCA) with CRISPR/Cas9 technology, isoleucine codon 207 (ATC) was changed to leucine (CTC) (c.619A>C, p.I207L). (J:283545)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count